Article

Pathogenic Variants in USH1G/SANS Alter the Protein Interaction With the Pre-RNA Processing Factors PRPF6 and PRPF31 of the Spliceosome

2023-11-09

Abstract excerpt

Pre-mRNA splicing is an essential process orchestrated by the spliceosome, a dynamic complex assembled stepwise on pre-mRNA. We have previously identified that USH1G protein SANS regulates pre-mRNA splicing by mediating the intra-nuclear transfer of the spliceosomal U4/U6.U5 tri-snRNP complex. During this process, SANS interacts with the U4/U6 and U5 snRNP-specific proteins PRPF31 and PRPF6 and regulates splicing,...

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Literature Corpus work: 7e139c5a-744a-5087-a40c-d7d587bfb9f8
DOI: 10.20944/preprints202311.0609.v1

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